Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes.
|
31414283 |
2020 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
None of them could be classified as affected by OI or by any of the three recognized EDS variants associated with COL1A1/COL1A2.
|
31794058 |
2020 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In our patient, compound heterozygosity with PLOD2 mutations is associated with a clinical phenotype distinctive from classic BRKS2 indicating that when COL1A1 and COL1A2 mutation testing is negative for OI without congenital contractures or pterygia, atypical BRKS should be considered.
|
31472299 |
2020 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified a known <i>COL1A1</i> (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous <i>COL5A1</i> (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS.
|
31239369 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.
|
31082677 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) type I caused by the null allele of COL1A1 gene is in the majority in clinical OI cases.
|
31369917 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
Biomarker
|
disease |
BEFREE |
This study revealed that glycine substitutions on COL1A1 resulted in the severe phenotype among Japanese patients with OI.
|
31363794 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
|
30886339 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Although up to 90% of patients harbor pathogenic variants in the <i>COL1A1/2</i> gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations.
|
31447884 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing.
|
31075690 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.
|
30614853 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents.
|
28956891 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
More than 85% Osteogenesis Imperfecta (OI) patients have pathogenic variants in COL1A1/A2.
|
31568717 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The large majority of individuals with an OI phenotype have disease-causing dominant variants in COL1A1 or COL1A2, the genes coding for collagen type I. Interestingly, large sequencing databases indicate that there are about 10 times more carriers of COL1A1/COL1A2 variants that should lead to OI than there are individuals with a diagnosis of OI.
|
31039433 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta.
|
28812463 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
Biomarker
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often arises from type I collagen-COL1A1 and COL1A2-gene defects leading to skeletal fragility, short stature, blue-gray sclera, and muscle weakness.
|
30908713 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene.
|
29764212 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Both inherited and de novo OI pathogenic variants occurred more often in the COL1A1 gene than in the COL1A2.
|
30675999 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We sought to identify the genetic causes and phenotypes of OI in Chinese patients without COL1A1 or COL1A2 mutations.
|
30913006 |
2019 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder primarily due to mutations in the type I collagen genes (COL1A1 and COL1A2), leading to compromised biomechanical integrity in type I collagen-containing tissues such as bone.
|
29813187 |
2018 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
29 patients showed mutations in COL1A1 or COL1A2 and were classified as OI.
|
29946973 |
2018 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2.
|
30039845 |
2018 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
She was provisionally diagnosed as having osteogenesis imperfecta and was investigated for COL1A1/A2 mutations which have been proven to be negative.
|
29642148 |
2018 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling.
|
29801479 |
2018 |
Osteogenesis Imperfecta
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary and diaphragmatic pathology in collagen type I α1 mutant mice with osteogenesis imperfecta.
|
29538357 |
2018 |